Hyper Ige Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

HIES MCID: HYP458 MIFTS: 56	Hyper Ige Syndrome (HIES) Categories: Blood diseases, Immune diseases, Rare diseases, Respiratory diseases, Skin diseases	Data Licensing For inquiries, contact: [email protected]
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Aliases & Classifications for Hyper Ige Syndrome

MalaCards integrated aliases for Hyper Ige Syndrome:

Name: Hyper Ige Syndrome ¹¹ ¹⁹ ¹⁴

Hyper-Ige Syndrome ⁵⁸ ²⁸ ⁵³ ⁵

Hyper-Ige Recurrent Infection Syndrome ¹⁹

Hyper Immunoglobulin E Syndrome ¹¹

Hyperimmunoglobulin E Syndrome ¹⁹

Hartnup Disease ⁷¹

Job Syndrome ⁷¹

Hyper Ige ⁷⁵

Hies ¹⁹

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Blood diseases Immune diseases Skin diseases Respiratory diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Certain disorders involving the immune mechanism

Immunodeficiency associated with other major defects

Hyperimmunoglobulin E [IgE] syndrome

Orphanet: ⁵⁸

Rare immunological diseases

External Ids:

Disease Ontology ¹¹ DOID:0080545

ICD10 via Orphanet ³² D82.4

UMLS via Orphanet ⁷² C3887645

Orphanet ⁵⁸ ORPHA331223

UMLS ⁷¹ C0018609 C3887645

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Summaries for Hyper Ige Syndrome

Disease Ontology: ¹¹ A hyperimmunoglobulin syndrome that is characterized by eczema, distinct facial features, a tendency to experience bone fractures and recurrent bacterial infections of the skin and lungs.

MalaCards based summary: Hyper Ige Syndrome, also known as hyper-ige syndrome, is related to hyper-ige recurrent infection syndrome 1, autosomal dominant and immunodeficiency 35, and has symptoms including seizures An important gene associated with Hyper Ige Syndrome is STAT3 (Signal Transducer And Activator Of Transcription 3), and among its related pathways/superpathways are Innate Immune System and ERK Signaling. The drugs Posaconazole and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include skin, lung and bone, and related phenotypes are homeostasis/metabolism and immune system

GARD: ¹⁹ Hyper IgE syndromes (HIES) are rare primary immune deficiencies characterized by elevated serum IgE, skin inflammation (dermatitis) and recurrent skin and lung infections.

Wikipedia: ⁷⁵ Hyperimmunoglobulinemia E syndrome (HIES), of which the autosomal dominant form is called Job's syndrome... more...

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Related Diseases for Hyper Ige Syndrome

Diseases related to Hyper Ige Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 716)

#	Related Disease	Score	Top Affiliating Genes
1	hyper-ige recurrent infection syndrome 1, autosomal dominant	33.5	STAT3 PGM3 DOP1A
2	immunodeficiency 35	32.8	TYK2 STAT3 PGM3 DOCK8 CCR6
3	hyper ige recurrent infection syndrome 1	32.3	TYK2 STAT3 PGM3 IL6 IL17A DOCK8
4	immune deficiency disease	31.5	TLR9 TLR2 IL6 IL4 IL17A IL10
5	hypereosinophilic syndrome	31.5	STAT3 IL4 IL10 IGHE IGES IFNG
6	dermatitis	31.4	TLR9 STAT3 IL6 IL4R IL4 IL17A
7	ige responsiveness, atopic	31.3	IL4R IL4 IL10 IGHE IGES IFNG
8	bronchiectasis	31.2	TLR2 IL6 IGHE IFNG
9	candidiasis	31.1	TLR4 TLR2 STAT3 IL6 IL4 IL17A
10	lung abscess	31.0	IL6 IGES IFNG DOCK8
11	exanthem	31.0	IL6 IL4 IL17A IL10 IFNG CSF2
12	tetanus	31.0	IL6 IL4 IL10 IFNG
13	folliculitis	31.0	IL4 IL17A IL10 IFNG CCR6
14	t cell deficiency	30.9	IL4 IL17A IL10 DOCK8 CCR6
15	allergic bronchopulmonary aspergillosis	30.9	IL4 IGHE IGES IFNG CCR6
16	eosinophilic gastroenteritis	30.9	IL4 IGHE CSF2
17	dermatitis, atopic	30.9	TLR9 TLR4 TLR2 STAT3 IL6 IL4R
18	food allergy	30.9	IL4R IL4 IL17A IL10 IGHE IGES
19	pneumonia	30.8	TYK2 TLR4 TLR3 TLR2 IL6 IL4
20	septic arthritis	30.8	TLR2 IL6 IL17A IL10
21	glomerulonephritis	30.8	TLR9 IL6 IL4 IL10
22	herpes zoster	30.7	TLR3 TLR2 IL10 IFNG CCR6
23	otitis media	30.7	TLR4 TLR2 IL6 IL4 IL17A IL10
24	aspergillosis	30.7	TLR9 TLR4 TLR3 TLR2 STAT3 IL6
25	esophagitis	30.7	IL6 IL4 IL10
26	oral candidiasis	30.6	IL6 IL17A CCR6
27	viral infectious disease	30.6	TLR9 TLR4 TLR3 TLR2 IL6 IL4
28	cytomegalovirus retinitis	30.6	IL10 IFNG CSF2
29	suppurative lymphadenitis	30.6	IFNG DOCK8
30	pneumocystosis	30.6	IL6 IL17A IL10 IFNG CCR6
31	keratoconjunctivitis	30.6	TLR9 IL4 IFNG
32	mastitis	30.6	TLR2 IL6 IL17A CSF2
33	burkitt lymphoma	30.6	TLR9 STAT3 IL6 IL4 IL10
34	eczema herpeticum	30.6	IL4 IGHE DOCK8 CCR6
35	cholangitis	30.6	TLR4 IL6 IL17A IL10
36	cellulitis	30.5	IL6 IL17A IGES CSF2 CCR6
37	diarrhea	30.5	TLR4 IL6 IL10 IFNG
38	lung disease	30.5	TLR9 TLR4 TLR2 STAT3 IL6 IL10
39	mycosis fungoides	30.5	STAT3 IL4 IFNG CCR6
40	aortitis	30.5	IL6 IL17A IFNG CCR6
41	periapical periodontitis	30.5	TLR2 IL6 IL17A IL10
42	schistosomiasis	30.5	IL4 IL17A IL10 IGHE IFNG
43	kimura disease	30.5	IL4 IGHE IGES
44	pemphigoid	30.5	IL6 IL4 IL17A IL10 IFNG
45	chronic mucocutaneous candidiasis	30.5	TYK2 TLR2 STAT3 PGM3 IL6 IL4
46	pyelonephritis	30.5	TLR4 IL6 IL10 IFNG
47	acquired immunodeficiency syndrome	30.5	IL6 IL10 IFNG CSF2
48	pharyngitis	30.5	TLR2 IL6 CSF2 CCR6
49	alopecia	30.4	IL6 IL4 IL17A IFNG
50	mumps	30.4	TLR3 IL6 IL10 IFNG

Graphical network of the top 20 diseases related to Hyper Ige Syndrome:

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Symptoms & Phenotypes for Hyper Ige Syndrome

UMLS symptoms related to Hyper Ige Syndrome:

seizures

MGI Mouse Phenotypes related to Hyper Ige Syndrome:

⁴⁵ (show all 15)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	homeostasis/metabolism	MP:0005376	10.37	CCR6 CSF2 CXCL5 IFNG IL10 IL17A
2	immune system	MP:0005387	10.36	CCR6 CSF2 CXCL5 DOCK8 IFNG IGHE
3	nervous system	MP:0003631	10.31	CCR6 CSF2 DOCK8 IFNG IL10 IL4
4	endocrine/exocrine gland	MP:0005379	10.29	CSF2 DOP1A IFNG IL10 IL17A IL4
5	renal/urinary system	MP:0005367	10.22	CSF2 IFNG IL17A IL4 IL6 PGM3
6	cellular	MP:0005384	10.21	CSF2 DOCK8 IFNG IL10 IL4 IL4R
7	digestive/alimentary	MP:0005381	10.2	IFNG IL10 IL17A IL4 IL4R IL6
8	liver/biliary system	MP:0005370	10.16	IFNG IL10 IL17A IL4 IL4R IL6
9	neoplasm	MP:0002006	10.15	CSF2 IFNG IL10 IL6 STAT3 TLR2
10	hematopoietic system	MP:0005397	10.13	CCR6 CSF2 CXCL5 DOCK8 DOP1A IFNG
11	respiratory system	MP:0005388	10.11	CSF2 IFNG IL10 IL17A IL4 IL4R
12	reproductive system	MP:0005389	10.06	CSF2 DOP1A IFNG IL10 IL4 IL6
13	skeleton	MP:0005390	9.96	CSF2 IFNG IL10 IL17A IL4 IL6
14	mortality/aging	MP:0010768	9.83	CSF2 CXCL5 IFNG IL10 IL17A IL4
15	integument	MP:0010771	9.36	CSF2 DOP1A IFNG IL10 IL17A IL4

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Drugs & Therapeutics for Hyper Ige Syndrome

Drugs for Hyper Ige Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 46)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Posaconazole

Approved, Investigational, Vet_approved

Phase 3

171228-49-2

147912

Miconazole

Approved, Investigational, Vet_approved

Phase 3

22916-47-8

4189

Clotrimazole

Approved, Vet_approved

Phase 3

23593-75-1

2812

Anti-Infective Agents

Phase 3

Hormones

Phase 3

Antiprotozoal Agents

Phase 3

Antiparasitic Agents

Phase 3

Hormone Antagonists

Phase 3

Antifungal Agents

Phase 3

Cytochrome P-450 Enzyme Inhibitors

Phase 3

Busulfan

Approved, Investigational

Phase 2

55-98-1

2478

Fludarabine

Approved

Phase 2

75607-67-9, 21679-14-1

30751 657237

Lenograstim

Approved, Investigational

Phase 2

135968-09-1

Cyclophosphamide

Approved, Investigational

Phase 2

50-18-0, 6055-19-2

2907

Ranitidine

Approved, Withdrawn

Phase 2

66357-59-3, 82530-72-1, 66357-35-5

3001055 5039

Sodium citrate

Approved, Investigational

Phase 2

68-04-2

23431961

Histamine

Approved, Investigational

Phase 2

51-45-6

774

Citric acid

Approved, Nutraceutical, Vet_approved

Phase 2

77-92-9

311

Antirheumatic Agents

Phase 2

Alkylating Agents

Phase 2

Antineoplastic Agents, Alkylating

Phase 2

Antimetabolites

Phase 2

Anesthetics

Phase 2

Immunosuppressive Agents

Phase 2

Immunologic Factors

Phase 2

Vaccines

Phase 2

Agglutinins

Phase 2

Immunoglobulins

Phase 2

Antibodies

Phase 2

Anti-Ulcer Agents

Phase 2

Neurotransmitter Agents

Phase 2

Antacids

Phase 2

Ranitidine bismuth citrate

Phase 2

Histamine phosphate

Phase 2

51-74-1

134614

Histamine H2 Antagonists

Phase 2

Histamine Antagonists

Phase 2

Bismuth tripotassium dicitrate

Phase 2

Bismuth

Phase 2

7440-69-9

105143

Gastrointestinal Agents

Phase 2

Citrate

Phase 2

Omalizumab

Approved, Investigational

Phase 1

242138-07-4

Immunoglobulins, Intravenous

Phase 1

Anti-Asthmatic Agents

Phase 1

Anti-Allergic Agents

Phase 1

Respiratory System Agents

Phase 1

Pharmaceutical Solutions

Early Phase 1

Interventional clinical trials:

(show all 12)

#	Name	Status	NCT ID	Phase	Drugs
1	Open Label, Limited Access Protocol of Posaconazole in Invasive Fungal Infections	Completed	NCT00033982	Phase 3	Posaconazole
2	Related and Unrelated Donor Hematopoietic Stem Cell Transplant for DOCK8 Deficiency	Recruiting	NCT01176006	Phase 2	Fludarabine(Fludara, Berlex Laboratories);Cyclophosphamide(CTX, Cytoxan);Busulfan (Busulfex)
3	Bilateral Orthotopic Lung Transplant in Tandem With CD3+ and CD19+ Cell Depleted Bone Marrow Transplant From Partially HLA-Matched Cadaveric Donors	Enrolling by invitation	NCT01852370	Phase 1, Phase 2
4	A Phase 2a Study to Evaluate the Safety, Tolerability, and Immunogenicity of One Dose of NDV-3A Vaccine in Patients With STAT3-Mutated Hyper-IgE Syndrome	Terminated	NCT02996448	Phase 2	NDV-3A
5	A Double-Blind, Randomized, Placebo-Controlled Cross-Over Study Assessing the Role of Pathogen-Specific IgE and Histamine Release in the Hyper-IgE Syndrome and the Effect of Ranitidine on Laboratory and Clinical Manifestations	Terminated	NCT00527878	Phase 2	Ranitidine;Placebo
6	Pilot Study of Omalizumab (Xolair) in Hyper IgE (Job's) Syndrome	Completed	NCT00260702	Phase 1	Omalizumab (Xolair)
7	Diagnostic Efficacy of Virtual Bronchoscopy	Completed	NCT00001515	Phase 1
8	NFIL3-induced Pathological Enhancement of IgE Class Switch Recombination in Hyper-IgE Syndrome	Unknown status	NCT02228941
9	Cognitive Function in Leukocyte Disorders	Completed	NCT00005933
10	Multicenter, Open, Prospective, Randomized Trial of Efficacy and Safety of the Plasmapheresis Method With Albumin Compensation Compared With the Plasmapheresis Method Without Albumin Compensation for Aging Biomarkers Correction in Men and Women Aged 40 to 55 Years Old	Recruiting	NCT04897113
11	Natural History, Management, and Genetics of the Hyperimmunoglobulin E Recurrent Infection Syndrome (HIES)	Recruiting	NCT00006150
12	Skin Immunity Sample Collection Involving Blisters and Biopsies	Not yet recruiting	NCT03921515	Early Phase 1

Search NIH Clinical Center for Hyper Ige Syndrome

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Genetic Tests for Hyper Ige Syndrome

Genetic tests related to Hyper Ige Syndrome:

#	Genetic test	Affiliating Genes
1	Hyper-Ige Syndrome ²⁸

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Anatomical Context for Hyper Ige Syndrome

Organs/tissues related to Hyper Ige Syndrome:

MalaCards : Skin, Lung, Bone, Bone Marrow, T Cells, B Cells, Neutrophil

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Publications for Hyper Ige Syndrome

Articles related to Hyper Ige Syndrome:

(show top 50) (show all 1175)

#	Title	Authors	PMID	Year
1	Uncovering an IL-10-dependent NF-kappaB recruitment to the IL-1ra promoter that is impaired in STAT3 functionally defective patients. ⁵³ ⁶² ⁵	Tamassia N...Bazzoni F	20032313	2010
2	Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome. ⁵³ ⁶² ⁵	Woellner C...Grimbacher B	20159255	2010
3	Hyper IgE syndrome: an update on clinical aspects and the role of signal transducer and activator of transcription 3. ⁵³ ⁶² ⁵	Paulson ML...Holland SM	18978467	2008
4	Novel and recurrent STAT3 mutations in hyper-IgE syndrome patients from different ethnic groups. ⁵³ ⁶² ⁵	Jiao H...Marodi L	18706697	2008
5	Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced T(H)17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome. ⁵³ ⁶² ⁵	Renner ED...Ochs HD	18602572	2008
6	STAT3 mutations in the hyper-IgE syndrome. ⁵³ ⁶² ⁵	Holland SM...Grimbacher B	17881745	2007
7	TH17 Cells in STAT3 Related Hyper-IgE Syndrome. ⁶² ⁵	Sharma S...Singh S	27226025	2016
8	Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: molecular, cellular, and clinical features from a French national survey. ⁶² ⁵	Chandesris MO...Picard C	22751495	2012
9	SH2-domain mutations in STAT3 in hyper-IgE syndrome patients result in impairment of IL-10 function. ⁶² ⁵	Giacomelli M...Badolato R	21792878	2011
10	Diagnostic approach to the hyper-IgE syndromes: immunologic and clinical key findings to differentiate hyper-IgE syndromes from atopic dermatitis. ⁶² ⁵	Schimke LF...Renner ED	20816194	2010
11	Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells. ⁶² ⁵	de Beaucoudrey L...Casanova JL	18591412	2008
12	Comprehensive genetic testing for primary immunodeficiency disorders in a tertiary hospital: 10-year experience in Auckland, New Zealand. ⁵	Woon ST...Ameratunga R	27980540	2016
13	Reduced expression of chemoattractant receptors by polymorphonuclear leukocytes in Hyper IgE Syndrome patients. ⁵³ ⁶²	Mintz R...Ben-Baruch A	20005258	2010
14	A novel mutation in the signal transducer and activator of transcription 3 (STAT3) gene, in hyper-IgE syndrome. ⁵³ ⁶²	Papanastasiou AD...Zarkadis IK	20149460	2010
15	Rapid molecular analysis of the STAT3 gene in Job syndrome of hyper-IgE and recurrent infectious diseases. ⁵³ ⁶²	Kumanovics A...Hill HR	20093388	2010
16	Hyper-IgE syndrome with STAT3 mutation: a case report in Mainland China. ⁵³ ⁶²	Xie L...Chen L	20490271	2010
17	Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome. ⁵³ ⁶²	Engelhardt KR...Chatila TA	20004785	2009
18	Hyper-IgE syndrome. ⁵³ ⁶²	Minegishi Y	19717292	2009
19	TH17 cells and regulatory T cells in primary immunodeficiency diseases. ⁵³ ⁶²	Ochs HD...Torgerson TR	19410687	2009
20	STAT3 single-nucleotide polymorphisms and STAT3 mutations associated with hyper-IgE syndrome are not responsible for increased serum IgE serum levels in asthma families. ⁵³ ⁶²	Wjst M...Grimbacher B	18841165	2009
21	Insights into the role of STAT3 in human lymphocyte differentiation as revealed by the hyper-IgE syndrome. ⁵³ ⁶²	Tangye SG...Fulcher DA	19109129	2009
22	Elevated serum immunoglobulin E (IgE): when to suspect hyper-IgE syndrome-A 10-year pediatric tertiary care center experience. ⁵³ ⁶²	Joshi AY...Abraham RS	19331717	2009
23	[Hyper-IgE syndrome with mutation in STAT3 gene - case report and literature review]. ⁵³ ⁶²	Heropolitanska-Pliszka E...Bernatowska E	19648655	2009
24	Rare association of hyper IgE syndrome with cervical rib and natal teeth. ⁵³ ⁶²	Roshan AS...Gomathy N	20101342	2009
25	Hyper IgE syndrome with umbilical hernia. ⁵³ ⁶²	Hiremath NC...Soumya N	20101344	2009
26	Primary immune deficiencies with aberrant IgE production. ⁵³ ⁶²	Ozcan E...Geha RS	19084106	2008
27	Reduced memory B cells in patients with hyper IgE syndrome. ⁵³ ⁶²	Speckmann C...Ehl S	18835223	2008
28	Deficiency of Th17 cells in hyper IgE syndrome due to mutations in STAT3. ⁵³ ⁶²	Ma CS...Cook MC	18591410	2008
29	Histopathologic Findings of Pneumatocele in a Patient with Hyper-IgE syndrome, compatible with cystic adenomatoid malformation. ⁵³ ⁶²	Aleyacin S...Attaran SY	18552413	2008
30	Fournier gangrene associated with hyper IgE syndrome (Job syndrome). ⁵³ ⁶²	Hori J...Hori M	18380833	2008
31	[STAT3 mutation identified in patients with Hyper-IgE syndrome]. ⁵³ ⁶²	Picard C	18334168	2008
32	Hyperimmunoglobulin E syndrome (Job's syndrome). ⁵³ ⁶²	Tamas MM...Rednic S	19284090	2008
33	Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome. ⁵³ ⁶²	Minegishi Y...Karasuyama H	17676033	2007
34	[Allergic disease with IgE hypersynthesis. Proposal of a new denomination for an allergic disease confused with immunodeficiency]. ⁵³ ⁶²	Lopez Perez G...Yamazaki Nakashimada MA	18297852	2007
35	The hyper IgE syndrome and mutations in TYK2. ⁵³ ⁶²	Woellner C...Grimbacher B	17521577	2007
36	Causes of death in hyper-IgE syndrome. ⁵³ ⁶²	Freeman AF...Holland SM	17335882	2007
37	[Pneumocystis carinii pneumonia in a patient with hyper-IgE syndrome]. ⁵³ ⁶²	Kubota M...Kawabata Y	17554982	2007
38	Hyper IgE syndrome: review and future directions. ⁵³ ⁶²	Freeman AF...Holland SM	20477605	2005
39	No indication for a defect in toll-like receptor signaling in patients with hyper-IgE syndrome. ⁵³ ⁶²	Renner ED...Rothenfusser S	16133988	2005
40	Production of biologically active recombinant human soluble CD23 and its effect on PBMCs isolated from hyper-IgE blood. ⁵³ ⁶²	Daniels BB...Oosthuizen V	16083870	2005
41	Non-Hodgkin's lymphoma in Job's syndrome: a case report and literature review. ⁵³ ⁶²	Leonard GD...Wilson WH	15621772	2004
42	Cow's milk allergy in a patient with hyper-IgE syndrome. ⁵³ ⁶²	Hernandez-Trujillo VP...Lew DB	15104201	2004
43	[28-Year-Old Patient with Elevated Serum IgE Levels and Multiple Refractory Epidural and Paravertebral Abscesses. Clinical manifestation of a Job's Syndrome?]. ⁵³ ⁶²	Plikat K...Scholmerich J	14551710	2003
44	Hyper immunoglobulin-E syndrome: a case with chronic ear draining mimicking polypoid otitis media. ⁵³ ⁶²	Gorur K...Vayisoglu Y	12663115	2003
45	Selective insufficiency of IFN-gamma secretion in patients with hyper-IgE syndrome. ⁵³ ⁶²	Ito R...Yokota S	12708982	2003
46	[Anesthetic management for a patient with hyper-IgE syndrome]. ⁵³ ⁶²	Suzuki Y...Higa K	12649874	2003
47	Detection and characterization of plasma cells in peripheral blood: correlation of IgE+ plasma cell frequency with IgE serum titre. ⁵³ ⁶²	Horst A...Assenmacher M	12452825	2002
48	[Manifestation of hyper-IgE syndrome in advanced HIV-1 infection]. ⁵³ ⁶²	Lange CG...Lederman MM	11831060	2002
49	Cytokine and chemokine dysregulation in hyper-IgE syndrome. ⁵³ ⁶²	Chehimi J...Sullivan KE	11414745	2001
50	[Loss of an eye due to hyper-IgE syndrome after corneal transplantation]. ⁵³ ⁶²	Strijdhorst B...Volker-Dieben HJ	11198964	2001

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Genes for Hyper Ige Syndrome

Genes related to Hyper Ige Syndrome (3 elite genes):

(show all 46)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	STAT3	Signal Transducer And Activator Of Transcription 3	Protein Coding	451.98	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	17881745 18591412 18602572 (more) 18706697 18978467 20032313 20159255 21792878 22751495 27980540 20816194 27226025 20093388 19648655 18841165 20149460 19109129 20490271 18334168 18591410 20004785 17676033 19410687
2	PGM3	Phosphoglucomutase 3	Protein Coding	407.56	Pathogenic ⁵ DISEASES inferred ¹⁴
3	DOP1A	DOP1 Leucine Zipper Like Protein A	Protein Coding	400	Pathogenic ⁵
4	DOCK8	Dedicator Of Cytokinesis 8	Protein Coding	26.72	DISEASES inferred ¹⁴ GeneCards inferred via : Publications Summaries (show sections)
5	IL4	Interleukin 4	Protein Coding	21.51	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	9860038 2116376 1720150 (more) 1825101 8997129 8500278 12708982 7978539 1308959
6	IFNG	Interferon Gamma	Protein Coding	20.02	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	12708982 10657822 9860038 (more) 2116376 1901779 8500278 16133988
7	IGHE	Immunoglobulin Heavy Constant Epsilon	Protein Coding	18.73	Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	2116376 10485303 1720150 (more) 18380833 7978539 10871737 18835223 18978467 17554982 16133988 2110192 18552413 9860038 1825101 8046339 9215244 10984372 7909476 17335882 11414745 1733637 20101344 11831060 9111874 1919004 18841165 19084106 17521577 15621772 14551710 10487085 8626993 7724285 20005258 19717292 19331717 8741037 8499770 1899687 17881745 16083870 15104201 11558395 10053178 19284090 12663115 1308959 20101342 11198964 12452825 12649874 18297852
8	IGES	Immunoglobulin E Concentration, Serum	Genetic Locus	15.88	Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	20477605
9	TYK2	Tyrosine Kinase 2	Protein Coding	15.39	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
10	IL17A	Interleukin 17A	Protein Coding	14.83	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
11	IL10	Interleukin 10	Protein Coding	13.89	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
12	TLR2	Toll Like Receptor 2	Protein Coding	13.21	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
13	CSF2	Colony Stimulating Factor 2	Protein Coding	12.78	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
14	TLR9	Toll Like Receptor 9	Protein Coding	12.57	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
15	TLR4	Toll Like Receptor 4	Protein Coding	12.53	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
16	IL6	Interleukin 6	Protein Coding	12.38	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	17881745
17	IL4R	Interleukin 4 Receptor	Protein Coding	12.1	DISEASES inferred ¹⁴ GeneCards inferred via : Functions (show sections)
18	TLR3	Toll Like Receptor 3	Protein Coding	12	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
19	CCR6	C-C Motif Chemokine Receptor 6	Protein Coding	11.82	DISEASES inferred ¹⁴ ¹⁴
20	CXCL5	C-X-C Motif Chemokine Ligand 5	Protein Coding	11.65	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
21	CXCR2	C-X-C Motif Chemokine Receptor 2	Protein Coding	11.42	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
22	CCL11	C-C Motif Chemokine Ligand 11	Protein Coding	11.28	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
23	CXCR1	C-X-C Motif Chemokine Receptor 1	Protein Coding	10.96	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
24	CCL7	C-C Motif Chemokine Ligand 7	Protein Coding	10.6	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
25	FPR1	Formyl Peptide Receptor 1	Protein Coding	10.31	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
26	SELL	Selectin L	Protein Coding	8.5	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	10507271
27	RNASE3	Ribonuclease A Family Member 3	Protein Coding	8.25	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	1769747
28	ICOSLG	Inducible T Cell Costimulator Ligand	Protein Coding	7.37	DISEASES inferred ¹⁴ ¹⁴
29	IL17F	Interleukin 17F	Protein Coding	7.25	DISEASES inferred ¹⁴
30	ZNF341	Zinc Finger Protein 341	Protein Coding	7.2	DISEASES inferred ¹⁴
31	CARD9	Caspase Recruitment Domain Family Member 9	Protein Coding	7.19	DISEASES inferred ¹⁴
32	IL18R1	Interleukin 18 Receptor 1	Protein Coding	7.17	GeneCards inferred via : Publications (show sections)
33	SOAT1	Sterol O-Acyltransferase 1	Protein Coding	7.17	GeneCards inferred via : Publications (show sections)
34	IL17RA	Interleukin 17 Receptor A	Protein Coding	7.15	DISEASES inferred ¹⁴
35	STAT1	Signal Transducer And Activator Of Transcription 1	Protein Coding	6.99	DISEASES inferred ¹⁴
36	IL12RB1	Interleukin 12 Receptor Subunit Beta 1	Protein Coding	6.98	DISEASES inferred ¹⁴
37	IL22	Interleukin 22	Protein Coding	6.81	DISEASES inferred ¹⁴
38	CD4	CD4 Molecule	Protein Coding	6.8	DISEASES inferred ¹⁴
39	IL17RC	Interleukin 17 Receptor C	Protein Coding	6.66	DISEASES inferred ¹⁴
40	AIRE	Autoimmune Regulator	Protein Coding	6.58	DISEASES inferred ¹⁴
41	CLEC7A	C-Type Lectin Domain Containing 7A	Protein Coding	6.5	DISEASES inferred ¹⁴
42	JAK3	Janus Kinase 3	Protein Coding	6.39	DISEASES inferred ¹⁴
43	SPINK5	Serine Peptidase Inhibitor Kazal Type 5	Protein Coding	6.38	DISEASES inferred ¹⁴
44	IL6ST	Interleukin 6 Cytokine Family Signal Transducer	Protein Coding	6.34	DISEASES inferred ¹⁴
45	STAT5B	Signal Transducer And Activator Of Transcription 5B	Protein Coding	6.16	DISEASES inferred ¹⁴
46	CD8A	CD8a Molecule	Protein Coding	6.14	DISEASES inferred ¹⁴

Sources

Variations for Hyper Ige Syndrome

ClinVar genetic disease variations for Hyper Ige Syndrome:

⁵ (show all 23)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	PGM3	NM_015599.3(PGM3):c.1016AAG[1] (p.Glu340del)	MICROSAT	Pathogenic	156471	rs267608259	GRCh37: 6:83888400-83888402 GRCh38: 6:83178681-83178683
2	DOP1A, PGM3	NM_015599.3(PGM3):c.1504G>T (p.Asp502Tyr)	SNV	Pathogenic	133321	rs267608261	GRCh37: 6:83880059-83880059 GRCh38: 6:83170340-83170340
3	PGM3	NM_015599.3(PGM3):c.248T>C (p.Leu83Ser)	SNV	Pathogenic	133320	rs267608260	GRCh37: 6:83898474-83898474 GRCh38: 6:83188755-83188755
4	STAT3	NM_139276.3(STAT3):c.1234A>T (p.Thr412Ser)	SNV	Pathogenic	633433	rs1567713850	GRCh37: 17:40481475-40481475 GRCh38: 17:42329457-42329457
5	STAT3	NM_139276.3(STAT3):c.1909G>A (p.Val637Met)	SNV	Pathogenic	18308	rs113994139	GRCh37: 17:40474492-40474492 GRCh38: 17:42322474-42322474
6	STAT3	NM_139276.3(STAT3):c.1979T>C (p.Met660Thr)	SNV	Likely Pathogenic	265261	rs886039434	GRCh37: 17:40474422-40474422 GRCh38: 17:42322404-42322404
7	STAT3	NM_139276.3(STAT3):c.*893dup	DUP	Uncertain Significance	323231	rs754306251	GRCh37: 17:40466869-40466870 GRCh38: 17:42314851-42314852
8	STAT3	NM_139276.3(STAT3):c.1101C>G (p.Cys367Trp)	SNV	Uncertain Significance	323246	rs886052942	GRCh37: 17:40483498-40483498 GRCh38: 17:42331480-42331480
9	DOCK8	NM_203447.4(DOCK8):c.1391C>T (p.Ser464Phe)	SNV	Uncertain Significance	366674	rs531279290	GRCh37: 9:336687-336687 GRCh38: 9:336687-336687
10	STAT3	NM_139276.3(STAT3):c.*2343del	DEL	Uncertain Significance	323206	rs886052929	GRCh37: 17:40465420-40465420 GRCh38: 17:42313402-42313402
11	DOCK8	NM_203447.4(DOCK8):c.5467C>T (p.Pro1823Ser)	SNV	Uncertain Significance	367026	rs766493394	GRCh37: 9:441986-441986 GRCh38: 9:441986-441986
12	STAT3	NM_139276.3(STAT3):c.2343_2344del	DEL	Uncertain Significance	323205	rs886052928	GRCh37: 17:40465419-40465420 GRCh38: 17:42313401-42313402
13	STAT3	NM_139276.3(STAT3):c.*894del	DEL	Uncertain Significance	323230	rs373212106	GRCh37: 17:40466869-40466869 GRCh38: 17:42314851-42314851
14	STAT3	NM_139276.3(STAT3):c.*2340dup	DUP	Uncertain Significance	323207	rs886052930	GRCh37: 17:40465422-40465423 GRCh38: 17:42313404-42313405
15	DOCK8	NM_203447.4(DOCK8):c.6068+11A>C	SNV	Uncertain Significance	367035	rs886063964	GRCh37: 9:452128-452128 GRCh38: 9:452128-452128
16	DOCK8	NM_203447.4(DOCK8):c.3234+15dup	DUP	Uncertain Significance	366970	rs375864618	GRCh37: 9:399267-399268 GRCh38: 9:399267-399268
17	DOCK8	NM_203447.4(DOCK8):c.828-7A>G	SNV	Uncertain Significance	366578	rs200243583	GRCh37: 9:325664-325664 GRCh38: 9:325664-325664
18	DOCK8	NM_203447.4(DOCK8):c.404+16del	DEL	Likely Benign	180037	rs727505303	GRCh37: 9:289591-289591 GRCh38: 9:289591-289591
19	STAT3	NM_139276.3(STAT3):c.*264dup	DUP	Likely Benign	323238	rs554015274	GRCh37: 17:40467498-40467499 GRCh38: 17:42315480-42315481
20	STAT3	NM_139276.3(STAT3):c.*342GTT[3]	MICROSAT	Likely Benign	323237	rs533596827	GRCh37: 17:40467410-40467412 GRCh38: 17:42315392-42315394
21	DOCK8	NM_203447.4(DOCK8):c.3234+15del	DEL	Likely Benign	366971	rs375864618	GRCh37: 9:399268-399268 GRCh38: 9:399268-399268
22	DOCK8-AS1, DOCK8	NM_203447.3(DOCK8):c.-113C>T	SNV	Benign	369626	rs2236547	GRCh37: 9:214864-214864 GRCh38: 9:214864-214864
23	STAT3	NM_139276.3(STAT3):c.1601-10dup	DUP	Benign	165294	rs3830585	GRCh37: 17:40475650-40475651 GRCh38: 17:42323632-42323633

Sources

Expression for Hyper Ige Syndrome

Search GEO for disease gene expression data for Hyper Ige Syndrome.

Sources

Pathways for Hyper Ige Syndrome

Pathways related to Hyper Ige Syndrome according to GeneCards Suite gene sharing:

(show top 50) (show all 77)

#	Super pathways	Score	Top Affiliating Genes
1	Innate Immune System ⁶⁶ Show member pathways Immune System ⁶⁶ Neutrophil degranulation ⁶⁶	14.02	CCR6 CSF2 IFNG IL10 IL17A IL4
2	ERK Signaling ⁶⁴ Show member pathways ILK Signaling ⁶⁴ MAPK Signaling ⁶⁴ Molecular Mechanisms of Cancer ⁶⁴ Rho Family GTPases ⁶⁴	13.86	STAT3 IL6 IL4R IL4 IL17A IL10
3	Disease ⁶⁶ Show member pathways Infectious disease ⁶⁶	13.84	TYK2 TLR9 TLR4 TLR3 TLR2 STAT3
4	MIF Mediated Glucocorticoid Regulation ⁶⁴ Show member pathways all-trans-Retinoic Acid Signaling in Brain ⁶⁴ Endothelin-1 Signaling Pathway ⁶⁴ Glucocorticoid Receptor Signaling ⁶⁴ IL-6 Pathway ⁶⁴ MIF Regulation of Innate Immune Cells ⁶⁴ NFAT Signaling and Lymphocyte Interactions ⁶⁴ Overview of proinflammatory and profibrotic mediators ⁷⁴ PEDF Induced Signaling ⁶⁴ PGC1Alpha Pathway ⁶⁴ RAR-Gamma-RXR-Alpha Degradation ⁶⁴ STAT3 Pathway ⁶⁴	13.66	CCR6 CSF2 CXCL5 IFNG IL10 IL17A
5	TGF-Beta Pathway ⁶⁴ Show member pathways JAK-STAT Pathway ⁶⁴ JNK Pathway ⁶⁴ MAPK Family Pathway ⁶⁴ Regulation of eIF4 and p70S6K ⁶⁴ SOCS Pathway ⁶⁴	13.58	TYK2 STAT3 IL6 IL4R IL4 IL17A
6	Prolactin Signaling ⁶⁴ Show member pathways Development Prolactin receptor signaling ²² EGFR Inhibitor Pathway, Pharmacodynamics ⁶⁰ EGFR tyrosine kinase inhibitor resistance ⁷⁴ ErbB Family Pathway ⁶⁴ ErbB signaling pathway ⁷⁴ ErbB2-ErbB3 Heterodimers ⁶⁴ ErbB4 Pathway ⁶⁴ Estrogen-stimulated signaling through PRKCZ ⁶⁶ Glioblastoma Multiforme ⁶⁴ Glioblastoma signaling pathways ⁷⁴ Growth Hormone Signaling ⁶⁴ HMGB1 Pathway ⁶⁴ IL-2 Pathway ⁶⁴ LPS Stimulated MAPK Signaling ⁶⁴ PACAP Signaling ⁶⁴ PI3K Signaling in B-Lymphocyte ⁶⁴ TCA cycle nutrient use and invasiveness of ovarian cancer ⁷⁴ Thrombopoietin Pathway ⁶⁴ TREM1 Pathway ⁶⁴ UVA-Induced MAPK Signaling ⁶⁴ UVB-Induced MAPK Signaling ⁶⁴ UVC-Induced MAPK Signaling ⁶⁴	13.52	IFNG IL4 IL4R IL6 STAT3 TLR2
7	Cytokine Signaling in Immune system ⁶⁶ Show member pathways Signaling by Interleukins ⁶⁶	13.4	TYK2 STAT3 IL6 IL4R IL4 IL17A
8	PAK Pathway ⁶⁴ Show member pathways Antioxidant Action of Vitamin-C ⁶⁴ Epithelial Adherens Junctions ⁶⁴	13.36	IL6 IL4R IL4 IL17A IL10 CXCL5
9	Akt Signaling ⁶⁴ Show member pathways p38 Signaling ⁶⁴ Tec Kinases Signaling ⁶⁴	13.33	CCR6 CSF2 CXCL5 IL10 IL17A IL4
10	Toll-like receptor signaling pathway ⁷⁴ Show member pathways Hepatitis B infection ⁷⁴ Measles virus infection ⁷⁴ Regulation of toll-like receptor signaling pathway ⁷⁴	12.94	IL6 STAT3 TLR2 TLR3 TLR4 TLR9
11	IL-9 Signaling Pathways ⁶⁵ Show member pathways Adipocytokines and Insulin Signaling ⁶⁵ Common Cytokine Receptor Gamma-Chain Family Signaling Pathways ⁶⁵ Development Thrombopoietin-regulated cell processes ²² IL-15 Signaling Pathways ⁶⁵ IL-2 Signaling Pathways ⁶⁵ IL-21 Signaling Pathways ⁶⁵ IL-4 Pathway ⁶⁴ IL-4 Signaling Pathways ⁶⁵ IL-7 Signaling Pathways ⁶⁵ IL-9 Pathway ⁶⁴ Immune response IL-9 signaling pathway ²² Interleukin-9 signaling ⁶⁶	12.89	TYK2 STAT3 IL6 IL4R IL4
12	NF-KappaB Family Pathway ⁶⁴ Show member pathways NF-KappaB (p50-p65) Pathway ⁶⁴	12.75	TLR9 TLR4 TLR3 TLR2 IL6
13	Overview of interferons-mediated signaling pathway ⁷⁴ Show member pathways all-trans-Retinoic Acid Mediated Apoptosis ⁶⁴ Cytokine Network ⁶⁴ Immune response IFN alpha/beta signaling pathway ²² Interferon alpha/beta signaling ⁶⁶ Jak/STAT Signaling Pathway ⁶⁵ Regulation of IFNA/IFNB signaling ⁶⁶ Type III interferon signaling ⁷⁴	12.72	TYK2 STAT3 IL6 IL4R IL4 IL17A
14	Immune response IL-23 signaling pathway ²² Show member pathways Angiopoietin receptor Tie2-mediated signaling ⁶¹ Angiopoietin-TIE2 Signaling ⁶⁴ Development Angiopoietin - Tie2 signaling ²² Development PDGF signaling via STATs and NF-kB ²² IL23-mediated signaling events ⁶¹ Immune response IL-10 signaling pathway ²² RAC1/PAK1/p38/MMP2 pathway ⁷⁴	12.68	TYK2 STAT3 IL6 IL17A IL10 IFNG
15	Toll-Like receptor Signaling Pathways ⁶⁵ Show member pathways Inflammasome Activation Pathways ⁶⁵ Nanomaterial-induced inflammasome activation ⁷⁴ NOD-like Receptor Signaling Pathways ⁶⁵ TLR4 signaling and tolerance ⁷⁴ Toll-Like Receptors Pathway ⁶⁴	12.59	IL6 TLR2 TLR3 TLR4 TLR9
16	NF-kappaB Signaling ³	12.57	TYK2 TLR9 TLR3 TLR2 STAT3 IL4
17	Bacterial infections in CF airways ²² Show member pathways Altered glycosylation of MUC1 in tumor microenvironment ⁷⁴ IL-1 beta-dependent CFTR expression ²² IL1-mediated signaling events ⁶¹ Immune response Bacterial infections in normal airways ²² Immune response TLR signaling pathways ²² NTHi-Induced Signaling ⁶⁴ Signal transduction through IL1R ⁷⁴	12.52	TLR9 TLR4 TLR2 IL6 IL4 IFNG
18	IL-17 Family Signaling Pathways ⁶⁵ Show member pathways IL17 signaling pathway ⁶⁷ IL-17 signaling pathway ⁷⁴ Mucin expression in CF via IL-6, IL-17 signaling pathways ²²	12.38	TLR2 STAT3 IL6 IL17A CXCL5 CSF2
19	Toll Comparative Pathway ⁶⁴ Show member pathways IL-1 Pathway ⁶⁴ Immune response MIF in innate immunity response ²² iNOS Signaling ⁶⁴ TLR-TRIF Pathway ⁶⁴	12.35	TLR4 TLR3 IL6 IFNG
20	Diseases of Immune System ⁶⁶ Show member pathways Diseases associated with the TLR signaling cascade ⁶⁶ Endogenous TLR signaling ⁶¹ IRAK4 deficiency (TLR2/4) ⁶⁶ IRAK4 deficiency (TLR5) ⁶⁶ MyD88 deficiency (TLR2/4) ⁶⁶ MyD88 deficiency (TLR5) ⁶⁶ Regulation of TLR by endogenous ligand ⁶⁶ Toll-like receptor signaling related to MyD88 ⁷⁴ Transfer of LPS from LBP carrier to CD14 ⁶⁶	12.29	TLR9 TLR4 TLR3 TLR2
21	Interleukin-12 family signaling ⁶⁶ Show member pathways Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation ⁶⁶ Interleukin-12 signaling ⁶⁶ Interleukin-23 signaling ⁶⁶ Interleukin-27 signaling ⁶⁶ Interleukin-35 Signalling ⁶⁶	12.27	TYK2 STAT3 IL10 IFNG
22	Colorectal Cancer Metastasis ⁶⁴	12.24	TLR9 TLR4 TLR3 TLR2 STAT3 IL6
23	T-cell activation SARS-CoV-2 ⁷⁴ Show member pathways T-cell antigen receptor (TCR) pathway during Staphylococcus aureus infection ⁷⁴	12.23	TYK2 IL4 IL17A IL10 IFNG CSF2
24	Neuroinflammation and glutamatergic signaling ⁷⁴	12.17	STAT3 IL6 IL4R IL4 IL10 IFNG
25	Integrin family cell surface interactions ⁶¹ Show member pathways Phagocytosis of Microbes ⁶⁴ Plexin-D1 Signaling ⁶¹	12.15	TLR9 TLR4 TLR3 TLR2
26	MAPK Pathway ⁷⁰ Show member pathways Toll-like Receptor Pathway ⁷⁰	12.13	TLR9 TLR4 TLR3 TLR2 STAT3
27	Hematopoietic Stem Cells and Lineage-specific Markers ⁶⁵	12.11	CSF2 IFNG IL10 IL4 IL6
28	Spinal cord injury ⁷⁴	12.07	TLR4 IL6 IL4 IFNG
29	IL12-mediated signaling events ⁶¹ Show member pathways Immune response IL-12-induced IFN-gamma production ²²	12.05	TYK2 STAT3 IL4 IFNG
30	Host-pathogen interaction of human coronaviruses - interferon induction ⁷⁴ Show member pathways Peginterferon alpha-2a/Peginterferon alpha-2b Pathway (Hepatocyte), Pharmacodynamics ⁶⁰ SARS coronavirus and innate immunity ⁷⁴ Type I interferon induction and signaling during SARS-CoV-2 infection ⁷⁴	12.01	TYK2 TLR9 TLR4 TLR3 TLR2
31	Interleukin-4 and Interleukin-13 signaling ⁶⁶	12.01	TYK2 STAT3 IL6 IL4R IL4 IL17A
32	Cytokine production by Th17 cells in CF (Mouse model) ²² Show member pathways Cytokine production by Th17 cells in CF ²²	11.99	TLR4 STAT3 IL6 IL17A CSF2
33	CCL18 signaling pathway ⁷⁴	11.98	STAT3 IL6 IL10 CCR6
34	Allograft rejection ⁷⁴	11.95	IL4 IL17A IL10 IFNG
35	Innate Lymphoid Cells Differentiation ⁶⁵	11.91	CCR6 IFNG IL10 IL17A IL4
36	Interferon Pathway ⁶⁴	11.89	TYK2 IL6 IFNG
37	Dendritic Cells Developmental Lineage Pathway ⁶⁵	11.87	TLR9 IL6 IL10 IFNG CSF2
38	Glucocorticoid receptor regulatory network ⁶¹	11.86	IL6 IL4 IFNG CSF2
39	Th17 Differentiation ⁶⁵ Show member pathways IL-21 Signaling and its Primary Biological Effects in Different Immune Cell Types ⁶⁵	11.86	IFNG IL17A IL4 IL4R IL6 STAT3
40	Extrafollicular B cell activation by SARS-CoV-2 ⁷⁴	11.84	TLR4 IL6 IL4 IL10 IFNG
41	AP-1 transcription factor network ⁶¹	11.82	IL6 IL4 IL10 IFNG CSF2
42	Acute viral myocarditis ⁷⁴	11.81	IFNG IL10 IL6 STAT3 TLR3 TLR4
43	Interleukin-6 family signaling ⁶⁶ Show member pathways IL-6-type cytokine receptor ligand interactions ⁶⁶ Immune response Oncostatin M signaling via JAK-Stat in human cells ²² Interleukin-6 signaling ⁶⁶	11.77	IL6 STAT3 TYK2
44	Calcineurin-regulated NFAT-dependent transcription in lymphocytes ⁶¹ Show member pathways Calcium signaling in the CD4+ TCR pathway ⁶¹	11.75	IL4 IFNG CSF2
45	IL 10 signaling pathway ⁶⁷	11.75	TYK2 TLR4 STAT3 IL6 IL10
46	Lung fibrosis ⁷⁴	11.71	CSF2 IL4 IL6
47	Photodynamic therapy-induced NF-kB survival signaling ⁷⁴ Show member pathways Immune response MIF-mediated glucocorticoid regulation ²²	11.71	CSF2 IFNG IL6
48	miRNAs involvement in the immune response in sepsis ⁷⁴	11.7	TLR4 IL6 IL10
49	Th17 cell differentiation pathway ⁷⁴	11.7	TYK2 STAT3 IL6 IL4R IL4 IL17A
50	IL4-mediated signaling events ⁶¹	11.69	IL4R IL4 IL10

Sources

GO Terms for Hyper Ige Syndrome

Biological processes related to Hyper Ige Syndrome according to GeneCards Suite gene sharing:

(show top 50) (show all 52)

#	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of transcription by RNA polymerase II	GO:0045944	10.65	IL10 IL17A IL4 IL6 STAT3 TLR2
2	signal transduction	GO:0007165	10.59	CCR6 CXCL5 IFNG IL10 IL4 IL4R
3	positive regulation of gene expression	GO:0010628	10.46	CSF2 IFNG IL4 IL6 STAT3 TLR2
4	inflammatory response	GO:0006954	10.42	CXCL5 IL17A IL6 STAT3 TLR2 TLR3
5	defense response to bacterium	GO:0042742	10.4	IGHE IL10 TLR3 TLR4 TLR9
6	defense response to virus	GO:0051607	10.39	TLR9 TLR3 TLR2 IL6 IFNG
7	cellular response to lipopolysaccharide	GO:0071222	10.38	TLR9 TLR4 IL6 IL10 CXCL5 CSF2
8	positive regulation of inflammatory response	GO:0050729	10.33	IFNG TLR2 TLR3 TLR4 TLR9
9	positive regulation of NF-kappaB transcription factor activity	GO:0051092	10.32	TLR9 TLR4 TLR3 TLR2 STAT3 IL6
10	defense response to Gram-negative bacterium	GO:0050829	10.28	IL17A IL6 TLR4 TLR9
11	cellular response to virus	GO:0098586	10.28	TYK2 TLR3 IL6 IFNG
12	positive regulation of type II interferon production	GO:0032729	10.27	TYK2 TLR9 TLR4 TLR3
13	positive regulation of tyrosine phosphorylation of STAT protein	GO:0042531	10.25	CSF2 IFNG IL4 IL6
14	positive regulation of NIK/NF-kappaB signaling	GO:1901224	10.25	TLR2 TLR3 TLR4 TLR9
15	positive regulation of interleukin-1 beta production	GO:0032731	10.25	IFNG IL17A IL6 STAT3 TLR4
16	receptor signaling pathway via JAK-STAT	GO:0007259	10.23	TYK2 STAT3 IFNG CSF2
17	positive regulation of interferon-beta production	GO:0032728	10.22	TLR9 TLR4 TLR3 TLR2
18	positive regulation of interleukin-8 production	GO:0032757	10.21	TLR9 TLR4 TLR3 TLR2 STAT3 IL6
19	positive regulation of immunoglobulin production	GO:0002639	10.2	IL10 IL4R IL6 TLR9
20	immune system process	GO:0002376	10.19	TLR9 TLR4 TLR3 TLR2 IL4R IL17A
21	positive regulation of cytokine production involved in inflammatory response	GO:1900017	10.19	TLR4 STAT3 IL6 IL17A
22	positive regulation of B cell proliferation	GO:0030890	10.18	TLR9 TLR4 IL4
23	positive regulation of receptor signaling pathway via JAK-STAT	GO:0046427	10.18	TYK2 IL6 IL10
24	positive regulation of interleukin-12 production	GO:0032735	10.18	IFNG IL17A TLR2 TLR3 TLR4 TLR9
25	negative regulation of osteoclast differentiation	GO:0045671	10.17	TLR4 TLR3 IL4
26	positive regulation of interferon-alpha production	GO:0032727	10.16	TLR9 TLR4 TLR3
27	microglial cell activation	GO:0001774	10.16	IFNG IL4 TLR2 TLR3 TLR9
28	positive regulation of tumor necrosis factor production	GO:0032760	10.16	IFNG IL17A IL6 STAT3 TLR2 TLR3
29	positive regulation of interleukin-10 production	GO:0032733	10.15	TLR9 TLR4 TLR2 STAT3 IL6 IL4
30	MyD88-dependent toll-like receptor signaling pathway	GO:0002755	10.14	TLR2 TLR4 TLR9
31	positive regulation of macrophage activation	GO:0043032	10.14	TLR4 IL4R IL10
32	macrophage activation	GO:0042116	10.14	TLR4 IL4 CSF2
33	positive regulation of nitric-oxide synthase biosynthetic process	GO:0051770	10.14	TLR9 TLR4 TLR2 IFNG
34	positive regulation of cytokine production	GO:0001819	10.13	TLR9 TLR3 IL10 IFNG
35	toll-like receptor signaling pathway	GO:0002224	10.11	TLR9 TLR4 TLR3 TLR2
36	positive regulation of MHC class II biosynthetic process	GO:0045348	10.1	TLR4 IL4 IL10 IFNG
37	positive regulation of interleukin-23 production	GO:0032747	10.09	IL17A IFNG CSF2
38	I-kappaB phosphorylation	GO:0007252	10.08	TLR9 TLR4 TLR3 TLR2
39	positive regulation of interleukin-6 production	GO:0032755	10.06	TLR9 TLR4 TLR3 TLR2 STAT3 IL6
40	response to molecule of bacterial origin	GO:0002237	10.04	TLR9 TLR2 IL10
41	positive regulation of toll-like receptor signaling pathway	GO:0034123	10.03	TLR9 TLR3 TLR2
42	neuroinflammatory response	GO:0150076	10.01	IL4 IFNG
43	intestinal epithelial structure maintenance	GO:0060729	10.01	TLR4 IL17A
44	regulation of isotype switching	GO:0045191	10	IL4 IL10
45	regulation of dendritic cell cytokine production	GO:0002730	10	TLR9 TLR4 TLR3
46	negative regulation of primary miRNA processing	GO:2000635	9.99	STAT3 IL6
47	positive regulation of matrix metallopeptidase secretion	GO:1904466	9.99	TLR4 TLR2
48	positive regulation of cellular response to macrophage colony-stimulating factor stimulus	GO:1903974	9.97	TLR4 TLR2
49	regulation of cytokine production	GO:0001817	9.89	TLR9 TLR2 IL10
50	positive regulation of chemokine production	GO:0032722	9.8	IFNG IL4R IL6 TLR2 TLR3 TLR4